Q9NY46 (SCN3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium channel protein type 3 subunit alpha

Alternative name(s):
Sodium channel protein brain III subunit alpha
Sodium channel protein type III subunit alpha
Voltage-gated sodium channel subtype III
Voltage-gated sodium channel subunit alpha Nav1.3

Gene names

Name:	SCN3A
Synonyms:	KIAA1356, NAC3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2000 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.
Subunit structure	The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L. Ref.3
Subcellular location	Membrane; Multi-pass membrane protein.
Domain	The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Post-translational modification	May be ubiquitinated by NEDD4L; which would promote its endocytosis.
Sequence similarities	Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily. [View classification] Contains 1 IQ domain.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Glycoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara voltage-gated sodium channel complex Non-traceable author statement. Source: UniProtKB
Molecular_function	voltage-gated sodium channel activity Non-traceable author statement Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Exons 6A and 6N only differ by a single residue.

Isoform 1 (identifier: Q9NY46-1)

Also known as: 6A-12+12b;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NY46-2)

Also known as: 6A-12;

The sequence of this isoform differs from the canonical sequence as follows:
     625-673: Missing.

Isoform 3 (identifier: Q9NY46-3)

Also known as: 6N-12+12b;

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: S → D

Isoform 4 (identifier: Q9NY46-4)

Also known as: 6N-12;

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: S → D
     625-673: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2000	2000	Sodium channel protein type 3 subunit alpha		PRO_0000048493
Regions
	Transmembrane	124 – 147	24	Helical; Name=S1 of repeat I; Potential
	Transmembrane	156 – 175	20	Helical; Name=S2 of repeat I; Potential
	Transmembrane	189 – 207	19	Helical; Name=S3 of repeat I; Potential
	Transmembrane	214 – 233	20	Helical; Voltage-sensor; Name=S4 of repeat I; Potential
	Transmembrane	249 – 273	25	Helical; Name=S5 of repeat I; Potential
	Transmembrane	401 – 426	26	Helical; Name=S6 of repeat I; Potential
	Transmembrane	755 – 779	25	Helical; Name=S1 of repeat II; Potential
	Transmembrane	791 – 814	24	Helical; Name=S2 of repeat II; Potential
	Transmembrane	823 – 842	20	Helical; Name=S3 of repeat II; Potential
	Transmembrane	849 – 869	21	Helical; Voltage-sensor; Name=S4 of repeat II; Potential
	Transmembrane	885 – 905	21	Helical; Name=S5 of repeat II; Potential
	Transmembrane	959 – 984	26	Helical; Name=S6 of repeat II; Potential
	Transmembrane	1202 – 1225	24	Helical; Name=S1 of repeat III; Potential
	Transmembrane	1239 – 1264	26	Helical; Name=S2 of repeat III; Potential
	Transmembrane	1271 – 1292	22	Helical; Name=S3 of repeat III; Potential
	Transmembrane	1297 – 1318	22	Helical; Voltage-sensor; Name=S4 of repeat III; Potential
	Transmembrane	1338 – 1359	22	Helical; Name=S5 of repeat III; Potential
	Transmembrane	1442 – 1468	27	Helical; Name=S6 of repeat III; Potential
	Transmembrane	1522 – 1545	24	Helical; Name=S1 of repeat IV; Potential
	Transmembrane	1557 – 1580	24	Helical; Name=S2 of repeat IV; Potential
	Transmembrane	1587 – 1610	24	Helical; Name=S3 of repeat IV; Potential
	Transmembrane	1621 – 1642	22	Helical; Voltage-sensor; Name=S4 of repeat IV; Potential
	Transmembrane	1658 – 1680	23	Helical; Name=S5 of repeat IV; Potential
	Transmembrane	1747 – 1771	25	Helical; Name=S6 of repeat IV; Potential
	Domain	1900 – 1929	30	IQ
Amino acid modifications
	Glycosylation	211	1	N-linked (GlcNAc...) Potential
	Glycosylation	290	1	N-linked (GlcNAc...) Potential
	Glycosylation	296	1	N-linked (GlcNAc...) Potential
	Glycosylation	302	1	N-linked (GlcNAc...) Potential
	Glycosylation	307	1	N-linked (GlcNAc...) Potential
	Glycosylation	339	1	N-linked (GlcNAc...) Potential
	Glycosylation	624	1	N-linked (GlcNAc...) Potential
	Glycosylation	884	1	N-linked (GlcNAc...) Potential
	Glycosylation	1051	1	N-linked (GlcNAc...) Potential
	Glycosylation	1068	1	N-linked (GlcNAc...) Potential
	Glycosylation	1134	1	N-linked (GlcNAc...) Potential
	Glycosylation	1366	1	N-linked (GlcNAc...) Potential
	Glycosylation	1380	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	208	1	S → D in isoform 3 and isoform 4.		VSP_001033
	Alternative sequence	625 – 673	49	Missing in isoform 2 and isoform 4.		VSP_001034
	Natural variant	43	1	Missing. Ref.10		VAR_029743
	Natural variant	606	1	S → T. Ref.4		VAR_014275
	Natural variant	1107	1	V → A. Corresponds to variant rs12474273 [ dbSNP | Ensembl ].		VAR_029744
	Natural variant	1803	1	D → N. Corresponds to variant rs3731762 [ dbSNP | Ensembl ].		VAR_055640
	Natural variant	1813	1	L → S. Ref.10		VAR_029745
Experimental info
	Mutagenesis	1970	1	Y → A: Abolishes interaction with NEDD4L. Ref.3
	Sequence conflict	175	1	A → V in AAC29514. Ref.4
	Sequence conflict	175	1	A → V in AAC29515. Ref.4
	Sequence conflict	318	1	Y → N in AAC29514. Ref.4
	Sequence conflict	318	1	Y → N in AAC29515. Ref.4
	Sequence conflict	401	1	M → T in AAC29514. Ref.4
	Sequence conflict	401	1	M → T in AAC29515. Ref.4
	Sequence conflict	475	1	I → V in AAK00219. Ref.2
	Sequence conflict	495	1	S → G in AAK00219. Ref.2
	Sequence conflict	604	1	S → G in AAK00219. Ref.2
	Sequence conflict	613	1	V → E in AAC29514. Ref.4
	Sequence conflict	613	1	V → E in AAC29515. Ref.4
	Sequence conflict	1060	1	E → A in AAC29514. Ref.4
	Sequence conflict	1060	1	E → A in AAC29515. Ref.4
	Sequence conflict	1163	1	L → F in AAK00219. Ref.2
	Sequence conflict	1274	1	W → R in AAC29514. Ref.4
	Sequence conflict	1274	1	W → R in AAC29515. Ref.4
	Sequence conflict	1329	1	V → L in AAB30530. Ref.6
	Sequence conflict	1414 – 1415	2	AT → VS in AAC29514. Ref.4
	Sequence conflict	1414 – 1415	2	AT → VS in AAC29515. Ref.4
	Sequence conflict	1614	1	F → S in AAK00219. Ref.2
	Sequence conflict	1741 – 1743	3	CGN → RGD in AAK00219. Ref.2
	Sequence conflict	1862	1	G → C in AAK00219. Ref.2
	Sequence conflict	1966	1	S → P in AAK00219. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (6A-12+12b) [UniParc]. Last modified November 8, 2002. Version 2. Checksum: F754A1C7D49ECB58	FASTA	2,000	226,294
	10 20 30 40 50 60 MAQALLVPPG PESFRLFTRE SLAAIEKRAA EEKAKKPKKE QDNDDENKPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVMNKGKAIF RFSATSALYI LTPLNPVRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTLSNP PDWTKNVEYT FTGIYTFESL IKILARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFSVIVM AYVTEFVSLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCLQW PPSDSAFETN TTSYFNGTMD 310 320 330 340 350 360 SNGTFVNVTM STFNWKDYIG DDSHFYVLDG QKDPLLCGNG SDAGQCPEGY ICVKAGRNPN 370 380 390 400 410 420 YGYTSFDTFS WAFLSLFRLM TQDYWENLYQ LTLRAAGKTY MIFFVLVIFL GSFYLVNLIL 430 440 450 460 470 480 AVVAMAYEEQ NQATLEEAEQ KEAEFQQMLE QLKKQQEEAQ AVAAASAASR DFSGIGGLGE 490 500 510 520 530 540 LLESSSEASK LSSKSAKEWR NRRKKRRQRE HLEGNNKGER DSFPKSESED SVKRSSFLFS 550 560 570 580 590 600 MDGNRLTSDK KFCSPHQSLL SIRGSLFSPR RNSKTSIFSF RGRAKDVGSE NDFADDEHST 610 620 630 640 650 660 FEDSESRRDS LFVPHRHGER RNSNVSQASM SSRMVPGLPA NGKMHSTVDC NGVVSLVGGP 670 680 690 700 710 720 SALTSPTGQL PPEGTTTETE VRKRRLSSYQ ISMEMLEDSS GRQRAVSIAS ILTNTMEELE 730 740 750 760 770 780 ESRQKCPPCW YRFANVFLIW DCCDAWLKVK HLVNLIVMDP FVDLAITICI VLNTLFMAME 790 800 810 820 830 840 HYPMTEQFSS VLTVGNLVFT GIFTAEMVLK IIAMDPYYYF QEGWNIFDGI IVSLSLMELG 850 860 870 880 890 900 LSNVEGLSVL RSFRLLRVFK LAKSWPTLNM LIKIIGNSVG ALGNLTLVLA IIVFIFAVVG 910 920 930 940 950 960 MQLFGKSYKE CVCKINDDCT LPRWHMNDFF HSFLIVFRVL CGEWIETMWD CMEVAGQTMC 970 980 990 1000 1010 1020 LIVFMLVMVI GNLVVLNLFL ALLLSSFSSD NLAATDDDNE MNNLQIAVGR MQKGIDYVKN 1030 1040 1050 1060 1070 1080 KMRECFQKAF FRKPKVIEIH EGNKIDSCMS NNTGIEISKE LNYLRDGNGT TSGVGTGSSV 1090 1100 1110 1120 1130 1140 EKYVIDENDY MSFINNPSLT VTVPIAVGES DFENLNTEEF SSESELEESK EKLNATSSSE 1150 1160 1170 1180 1190 1200 GSTVDVVLPR EGEQAETEPE EDLKPEACFT EGCIKKFPFC QVSTEEGKGK IWWNLRKTCY 1210 1220 1230 1240 1250 1260 SIVEHNWFET FIVFMILLSS GALAFEDIYI EQRKTIKTML EYADKVFTYI FILEMLLKWV 1270 1280 1290 1300 1310 1320 AYGFQTYFTN AWCWLDFLIV DVSLVSLVAN ALGYSELGAI KSLRTLRALR PLRALSRFEG 1330 1340 1350 1360 1370 1380 MRVVVNALVG AIPSIMNVLL VCLIFWLIFS IMGVNLFAGK FYHCVNMTTG NMFDISDVNN 1390 1400 1410 1420 1430 1440 LSDCQALGKQ ARWKNVKVNF DNVGAGYLAL LQVATFKGWM DIMYAAVDSR DVKLQPVYEE 1450 1460 1470 1480 1490 1500 NLYMYLYFVI FIIFGSFFTL NLFIGVIIDN FNQQKKKFGG QDIFMTEEQK KYYNAMKKLG 1510 1520 1530 1540 1550 1560 SKKPQKPIPR PANKFQGMVF DFVTRQVFDI SIMILICLNM VTMMVETDDQ GKYMTLVLSR 1570 1580 1590 1600 1610 1620 INLVFIVLFT GEFVLKLVSL RHYYFTIGWN IFDFVVVILS IVGMFLAEMI EKYFVSPTLF 1630 1640 1650 1660 1670 1680 RVIRLARIGR ILRLIKGAKG IRTLLFALMM SLPALFNIGL LLFLVMFIYA IFGMSNFAYV 1690 1700 1710 1720 1730 1740 KKEAGIDDMF NFETFGNSMI CLFQITTSAG WDGLLAPILN SAPPDCDPDT IHPGSSVKGD 1750 1760 1770 1780 1790 1800 CGNPSVGIFF FVSYIIISFL VVVNMYIAVI LENFSVATEE SAEPLSEDDF EMFYEVWEKF 1810 1820 1830 1840 1850 1860 DPDATQFIEF SKLSDFAAAL DPPLLIAKPN KVQLIAMDLP MVSGDRIHCL DILFAFTKRV 1870 1880 1890 1900 1910 1920 LGESGEMDAL RIQMEDRFMA SNPSKVSYEP ITTTLKRKQE EVSAAIIQRN FRCYLLKQRL 1930 1940 1950 1960 1970 1980 KNISSNYNKE AIKGRIDLPI KQDMIIDKLN GNSTPEKTDG SSSTTSPPSY DSVTKPDKEK 1990 2000 FEKDKPEKES KGKEVRENQK
	Isoform 2 (6A-12) [UniParc]. Checksum: B692559143D6C8B5	FASTA	1,951	221,462
	10 20 30 40 50 60 MAQALLVPPG PESFRLFTRE SLAAIEKRAA EEKAKKPKKE QDNDDENKPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVMNKGKAIF RFSATSALYI LTPLNPVRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTLSNP PDWTKNVEYT FTGIYTFESL IKILARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFSVIVM AYVTEFVSLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCLQW PPSDSAFETN TTSYFNGTMD 310 320 330 340 350 360 SNGTFVNVTM STFNWKDYIG DDSHFYVLDG QKDPLLCGNG SDAGQCPEGY ICVKAGRNPN 370 380 390 400 410 420 YGYTSFDTFS WAFLSLFRLM TQDYWENLYQ LTLRAAGKTY MIFFVLVIFL GSFYLVNLIL 430 440 450 460 470 480 AVVAMAYEEQ NQATLEEAEQ KEAEFQQMLE QLKKQQEEAQ AVAAASAASR DFSGIGGLGE 490 500 510 520 530 540 LLESSSEASK LSSKSAKEWR NRRKKRRQRE HLEGNNKGER DSFPKSESED SVKRSSFLFS 550 560 570 580 590 600 MDGNRLTSDK KFCSPHQSLL SIRGSLFSPR RNSKTSIFSF RGRAKDVGSE NDFADDEHST 610 620 630 640 650 660 FEDSESRRDS LFVPHRHGER RNSNGTTTET EVRKRRLSSY QISMEMLEDS SGRQRAVSIA 670 680 690 700 710 720 SILTNTMEEL EESRQKCPPC WYRFANVFLI WDCCDAWLKV KHLVNLIVMD PFVDLAITIC 730 740 750 760 770 780 IVLNTLFMAM EHYPMTEQFS SVLTVGNLVF TGIFTAEMVL KIIAMDPYYY FQEGWNIFDG 790 800 810 820 830 840 IIVSLSLMEL GLSNVEGLSV LRSFRLLRVF KLAKSWPTLN MLIKIIGNSV GALGNLTLVL 850 860 870 880 890 900 AIIVFIFAVV GMQLFGKSYK ECVCKINDDC TLPRWHMNDF FHSFLIVFRV LCGEWIETMW 910 920 930 940 950 960 DCMEVAGQTM CLIVFMLVMV IGNLVVLNLF LALLLSSFSS DNLAATDDDN EMNNLQIAVG 970 980 990 1000 1010 1020 RMQKGIDYVK NKMRECFQKA FFRKPKVIEI HEGNKIDSCM SNNTGIEISK ELNYLRDGNG 1030 1040 1050 1060 1070 1080 TTSGVGTGSS VEKYVIDEND YMSFINNPSL TVTVPIAVGE SDFENLNTEE FSSESELEES 1090 1100 1110 1120 1130 1140 KEKLNATSSS EGSTVDVVLP REGEQAETEP EEDLKPEACF TEGCIKKFPF CQVSTEEGKG 1150 1160 1170 1180 1190 1200 KIWWNLRKTC YSIVEHNWFE TFIVFMILLS SGALAFEDIY IEQRKTIKTM LEYADKVFTY 1210 1220 1230 1240 1250 1260 IFILEMLLKW VAYGFQTYFT NAWCWLDFLI VDVSLVSLVA NALGYSELGA IKSLRTLRAL 1270 1280 1290 1300 1310 1320 RPLRALSRFE GMRVVVNALV GAIPSIMNVL LVCLIFWLIF SIMGVNLFAG KFYHCVNMTT 1330 1340 1350 1360 1370 1380 GNMFDISDVN NLSDCQALGK QARWKNVKVN FDNVGAGYLA LLQVATFKGW MDIMYAAVDS 1390 1400 1410 1420 1430 1440 RDVKLQPVYE ENLYMYLYFV IFIIFGSFFT LNLFIGVIID NFNQQKKKFG GQDIFMTEEQ 1450 1460 1470 1480 1490 1500 KKYYNAMKKL GSKKPQKPIP RPANKFQGMV FDFVTRQVFD ISIMILICLN MVTMMVETDD 1510 1520 1530 1540 1550 1560 QGKYMTLVLS RINLVFIVLF TGEFVLKLVS LRHYYFTIGW NIFDFVVVIL SIVGMFLAEM 1570 1580 1590 1600 1610 1620 IEKYFVSPTL FRVIRLARIG RILRLIKGAK GIRTLLFALM MSLPALFNIG LLLFLVMFIY 1630 1640 1650 1660 1670 1680 AIFGMSNFAY VKKEAGIDDM FNFETFGNSM ICLFQITTSA GWDGLLAPIL NSAPPDCDPD 1690 1700 1710 1720 1730 1740 TIHPGSSVKG DCGNPSVGIF FFVSYIIISF LVVVNMYIAV ILENFSVATE ESAEPLSEDD 1750 1760 1770 1780 1790 1800 FEMFYEVWEK FDPDATQFIE FSKLSDFAAA LDPPLLIAKP NKVQLIAMDL PMVSGDRIHC 1810 1820 1830 1840 1850 1860 LDILFAFTKR VLGESGEMDA LRIQMEDRFM ASNPSKVSYE PITTTLKRKQ EEVSAAIIQR 1870 1880 1890 1900 1910 1920 NFRCYLLKQR LKNISSNYNK EAIKGRIDLP IKQDMIIDKL NGNSTPEKTD GSSSTTSPPS 1930 1940 1950 YDSVTKPDKE KFEKDKPEKE SKGKEVRENQ K
	Isoform 3 (6N-12+12b) [UniParc]. Checksum: 167F971F19CC12CC	FASTA	2,000	226,322
	10 20 30 40 50 60 MAQALLVPPG PESFRLFTRE SLAAIEKRAA EEKAKKPKKE QDNDDENKPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVMNKGKAIF RFSATSALYI LTPLNPVRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTLSNP PDWTKNVEYT FTGIYTFESL IKILARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFSVIVM AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCLQW PPSDSAFETN TTSYFNGTMD 310 320 330 340 350 360 SNGTFVNVTM STFNWKDYIG DDSHFYVLDG QKDPLLCGNG SDAGQCPEGY ICVKAGRNPN 370 380 390 400 410 420 YGYTSFDTFS WAFLSLFRLM TQDYWENLYQ LTLRAAGKTY MIFFVLVIFL GSFYLVNLIL 430 440 450 460 470 480 AVVAMAYEEQ NQATLEEAEQ KEAEFQQMLE QLKKQQEEAQ AVAAASAASR DFSGIGGLGE 490 500 510 520 530 540 LLESSSEASK LSSKSAKEWR NRRKKRRQRE HLEGNNKGER DSFPKSESED SVKRSSFLFS 550 560 570 580 590 600 MDGNRLTSDK KFCSPHQSLL SIRGSLFSPR RNSKTSIFSF RGRAKDVGSE NDFADDEHST 610 620 630 640 650 660 FEDSESRRDS LFVPHRHGER RNSNVSQASM SSRMVPGLPA NGKMHSTVDC NGVVSLVGGP 670 680 690 700 710 720 SALTSPTGQL PPEGTTTETE VRKRRLSSYQ ISMEMLEDSS GRQRAVSIAS ILTNTMEELE 730 740 750 760 770 780 ESRQKCPPCW YRFANVFLIW DCCDAWLKVK HLVNLIVMDP FVDLAITICI VLNTLFMAME 790 800 810 820 830 840 HYPMTEQFSS VLTVGNLVFT GIFTAEMVLK IIAMDPYYYF QEGWNIFDGI IVSLSLMELG 850 860 870 880 890 900 LSNVEGLSVL RSFRLLRVFK LAKSWPTLNM LIKIIGNSVG ALGNLTLVLA IIVFIFAVVG 910 920 930 940 950 960 MQLFGKSYKE CVCKINDDCT LPRWHMNDFF HSFLIVFRVL CGEWIETMWD CMEVAGQTMC 970 980 990 1000 1010 1020 LIVFMLVMVI GNLVVLNLFL ALLLSSFSSD NLAATDDDNE MNNLQIAVGR MQKGIDYVKN 1030 1040 1050 1060 1070 1080 KMRECFQKAF FRKPKVIEIH EGNKIDSCMS NNTGIEISKE LNYLRDGNGT TSGVGTGSSV 1090 1100 1110 1120 1130 1140 EKYVIDENDY MSFINNPSLT VTVPIAVGES DFENLNTEEF SSESELEESK EKLNATSSSE 1150 1160 1170 1180 1190 1200 GSTVDVVLPR EGEQAETEPE EDLKPEACFT EGCIKKFPFC QVSTEEGKGK IWWNLRKTCY 1210 1220 1230 1240 1250 1260 SIVEHNWFET FIVFMILLSS GALAFEDIYI EQRKTIKTML EYADKVFTYI FILEMLLKWV 1270 1280 1290 1300 1310 1320 AYGFQTYFTN AWCWLDFLIV DVSLVSLVAN ALGYSELGAI KSLRTLRALR PLRALSRFEG 1330 1340 1350 1360 1370 1380 MRVVVNALVG AIPSIMNVLL VCLIFWLIFS IMGVNLFAGK FYHCVNMTTG NMFDISDVNN 1390 1400 1410 1420 1430 1440 LSDCQALGKQ ARWKNVKVNF DNVGAGYLAL LQVATFKGWM DIMYAAVDSR DVKLQPVYEE 1450 1460 1470 1480 1490 1500 NLYMYLYFVI FIIFGSFFTL NLFIGVIIDN FNQQKKKFGG QDIFMTEEQK KYYNAMKKLG 1510 1520 1530 1540 1550 1560 SKKPQKPIPR PANKFQGMVF DFVTRQVFDI SIMILICLNM VTMMVETDDQ GKYMTLVLSR 1570 1580 1590 1600 1610 1620 INLVFIVLFT GEFVLKLVSL RHYYFTIGWN IFDFVVVILS IVGMFLAEMI EKYFVSPTLF 1630 1640 1650 1660 1670 1680 RVIRLARIGR ILRLIKGAKG IRTLLFALMM SLPALFNIGL LLFLVMFIYA IFGMSNFAYV 1690 1700 1710 1720 1730 1740 KKEAGIDDMF NFETFGNSMI CLFQITTSAG WDGLLAPILN SAPPDCDPDT IHPGSSVKGD 1750 1760 1770 1780 1790 1800 CGNPSVGIFF FVSYIIISFL VVVNMYIAVI LENFSVATEE SAEPLSEDDF EMFYEVWEKF 1810 1820 1830 1840 1850 1860 DPDATQFIEF SKLSDFAAAL DPPLLIAKPN KVQLIAMDLP MVSGDRIHCL DILFAFTKRV 1870 1880 1890 1900 1910 1920 LGESGEMDAL RIQMEDRFMA SNPSKVSYEP ITTTLKRKQE EVSAAIIQRN FRCYLLKQRL 1930 1940 1950 1960 1970 1980 KNISSNYNKE AIKGRIDLPI KQDMIIDKLN GNSTPEKTDG SSSTTSPPSY DSVTKPDKEK 1990 2000 FEKDKPEKES KGKEVRENQK
	Isoform 4 (6N-12) [UniParc]. Checksum: A871C354C5535029	FASTA	1,951	221,490
	10 20 30 40 50 60 MAQALLVPPG PESFRLFTRE SLAAIEKRAA EEKAKKPKKE QDNDDENKPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVMNKGKAIF RFSATSALYI LTPLNPVRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTLSNP PDWTKNVEYT FTGIYTFESL IKILARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFSVIVM AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCLQW PPSDSAFETN TTSYFNGTMD 310 320 330 340 350 360 SNGTFVNVTM STFNWKDYIG DDSHFYVLDG QKDPLLCGNG SDAGQCPEGY ICVKAGRNPN 370 380 390 400 410 420 YGYTSFDTFS WAFLSLFRLM TQDYWENLYQ LTLRAAGKTY MIFFVLVIFL GSFYLVNLIL 430 440 450 460 470 480 AVVAMAYEEQ NQATLEEAEQ KEAEFQQMLE QLKKQQEEAQ AVAAASAASR DFSGIGGLGE 490 500 510 520 530 540 LLESSSEASK LSSKSAKEWR NRRKKRRQRE HLEGNNKGER DSFPKSESED SVKRSSFLFS 550 560 570 580 590 600 MDGNRLTSDK KFCSPHQSLL SIRGSLFSPR RNSKTSIFSF RGRAKDVGSE NDFADDEHST 610 620 630 640 650 660 FEDSESRRDS LFVPHRHGER RNSNGTTTET EVRKRRLSSY QISMEMLEDS SGRQRAVSIA 670 680 690 700 710 720 SILTNTMEEL EESRQKCPPC WYRFANVFLI WDCCDAWLKV KHLVNLIVMD PFVDLAITIC 730 740 750 760 770 780 IVLNTLFMAM EHYPMTEQFS SVLTVGNLVF TGIFTAEMVL KIIAMDPYYY FQEGWNIFDG 790 800 810 820 830 840 IIVSLSLMEL GLSNVEGLSV LRSFRLLRVF KLAKSWPTLN MLIKIIGNSV GALGNLTLVL 850 860 870 880 890 900 AIIVFIFAVV GMQLFGKSYK ECVCKINDDC TLPRWHMNDF FHSFLIVFRV LCGEWIETMW 910 920 930 940 950 960 DCMEVAGQTM CLIVFMLVMV IGNLVVLNLF LALLLSSFSS DNLAATDDDN EMNNLQIAVG 970 980 990 1000 1010 1020 RMQKGIDYVK NKMRECFQKA FFRKPKVIEI HEGNKIDSCM SNNTGIEISK ELNYLRDGNG 1030 1040 1050 1060 1070 1080 TTSGVGTGSS VEKYVIDEND YMSFINNPSL TVTVPIAVGE SDFENLNTEE FSSESELEES 1090 1100 1110 1120 1130 1140 KEKLNATSSS EGSTVDVVLP REGEQAETEP EEDLKPEACF TEGCIKKFPF CQVSTEEGKG 1150 1160 1170 1180 1190 1200 KIWWNLRKTC YSIVEHNWFE TFIVFMILLS SGALAFEDIY IEQRKTIKTM LEYADKVFTY 1210 1220 1230 1240 1250 1260 IFILEMLLKW VAYGFQTYFT NAWCWLDFLI VDVSLVSLVA NALGYSELGA IKSLRTLRAL 1270 1280 1290 1300 1310 1320 RPLRALSRFE GMRVVVNALV GAIPSIMNVL LVCLIFWLIF SIMGVNLFAG KFYHCVNMTT 1330 1340 1350 1360 1370 1380 GNMFDISDVN NLSDCQALGK QARWKNVKVN FDNVGAGYLA LLQVATFKGW MDIMYAAVDS 1390 1400 1410 1420 1430 1440 RDVKLQPVYE ENLYMYLYFV IFIIFGSFFT LNLFIGVIID NFNQQKKKFG GQDIFMTEEQ 1450 1460 1470 1480 1490 1500 KKYYNAMKKL GSKKPQKPIP RPANKFQGMV FDFVTRQVFD ISIMILICLN MVTMMVETDD 1510 1520 1530 1540 1550 1560 QGKYMTLVLS RINLVFIVLF TGEFVLKLVS LRHYYFTIGW NIFDFVVVIL SIVGMFLAEM 1570 1580 1590 1600 1610 1620 IEKYFVSPTL FRVIRLARIG RILRLIKGAK GIRTLLFALM MSLPALFNIG LLLFLVMFIY 1630 1640 1650 1660 1670 1680 AIFGMSNFAY VKKEAGIDDM FNFETFGNSM ICLFQITTSA GWDGLLAPIL NSAPPDCDPD 1690 1700 1710 1720 1730 1740 TIHPGSSVKG DCGNPSVGIF FFVSYIIISF LVVVNMYIAV ILENFSVATE ESAEPLSEDD 1750 1760 1770 1780 1790 1800 FEMFYEVWEK FDPDATQFIE FSKLSDFAAA LDPPLLIAKP NKVQLIAMDL PMVSGDRIHC 1810 1820 1830 1840 1850 1860 LDILFAFTKR VLGESGEMDA LRIQMEDRFM ASNPSKVSYE PITTTLKRKQ EEVSAAIIQR 1870 1880 1890 1900 1910 1920 NFRCYLLKQR LKNISSNYNK EAIKGRIDLP IKQDMIIDKL NGNSTPEKTD GSSSTTSPPS 1930 1940 1950 YDSVTKPDKE KFEKDKPEKE SKGKEVRENQ K

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, distribution and functional analysis of the human brain type III sodium channel from human brain." Chen Y., Dale T.J., Romanos M.A., Whitaker W.R., Xie X., Clare J.J. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Brain.
[2]	"Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN3A." Jeong S.-Y., Goto J., Kanazawa I. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]	"Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins." Rougier J.-S., van Bemmelen M.X., Bruce M.C., Jespersen T., Gavillet B., Apotheloz F., Cordonier S., Staub O., Rotin D., Abriel H. Am. J. Physiol. 288:C692-C701(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NEDD4L, POSSIBLE UBIQUITINATION, MUTAGENESIS OF TYR-1970.
[4]	"Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus." Kasai N., Fukushima K., Ueki Y., Prasad S., Nosakowski J., Sugata K., Sugata A., Nishizaki K., Meyer N.C., Smith R.J.H. Gene 264:113-122(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT THR-606.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit." Lu C.M., Brown G.B. J. Mol. Neurosci. 10:67-70(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1415 (ISOFORMS 2 AND 4). Tissue: Brain.
[7]	"Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31." Malo M.S., Srivastava K., Andresen J.M., Chen X.N., Korenberg J.R., Ingram V.M. Proc. Natl. Acad. Sci. U.S.A. 91:2975-2979(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1324-1413. Tissue: Placenta.
[8]	"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1482-2000. Tissue: Brain.
[9]	"Endogenous sodium current in HEK293 cells: increase in cell surface expression of endogenous currents by stable transfection of the Beta 1 subunit." Tonkovich G.S., Kyle J.W. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1669-1750. Tissue: Kidney.
[10]	"Sodium channels SCN1A, SCN2A and SCN3A in familial autism." Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., Meisler M.H. Mol. Psychiatry 8:186-194(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ASN-43 DEL AND SER-1813.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ251507 mRNA. Translation: CAB85895.1. AF225987 mRNA. Translation: AAK00219.1. AF330135 , AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53414.1. AF330135 , AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53415.1. AC013463 Genomic DNA. Translation: AAY15072.1. AF035685 mRNA. Translation: AAC29514.1. AF035686 mRNA. Translation: AAC29515.1. S69887 Genomic DNA. Translation: AAB30530.1. AB037777 mRNA. Translation: BAA92594.1. AF239921 mRNA. Translation: AAF44690.1.
IPI	IPI00020692. IPI00218521. IPI00218522. IPI00397861.
PIR	A54937.
RefSeq	NP_001075145.1. NM_001081676.1. NP_001075146.1. NM_001081677.1. NP_008853.3. NM_006922.3.
UniGene	Hs.435274.
3D structure databases
ProteinModelPortal	Q9NY46.
ModBase	Search...
PTM databases
PhosphoSite	Q9NY46.
Polymorphism databases
DMDM	25014054.
Proteomic databases
PaxDb	Q9NY46.
PRIDE	Q9NY46.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000283254; ENSP00000283254; ENSG00000153253. ENST00000360093; ENSP00000353206; ENSG00000153253. ENST00000409101; ENSP00000386726; ENSG00000153253.
GeneID	6328.
KEGG	hsa:6328.
UCSC	uc002ucx.3. human. uc002ucy.3. human. uc002ucz.3. human.
Organism-specific databases
CTD	6328.
GeneCards	GC02M165908.
HGNC	HGNC:10590. SCN3A.
HPA	HPA035397.
MIM	182391. gene.
neXtProt	NX_Q9NY46.
PharmGKB	PA35005.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1226.
HOVERGEN	HBG053100.
KO	K04836.
OMA	NGTMDSN.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	Q9NY46.
Bgee	Q9NY46.
CleanEx	HS_SCN3A.
Genevestigator	Q9NY46.
GermOnline	ENSG00000153253. Homo sapiens.
Family and domain databases
InterPro	IPR024583. DUF3451. IPR005821. Ion_trans_dom. IPR000048. IQ_motif_EF-hand-BS. IPR001696. Na_channel_asu. IPR010526. Na_trans_assoc. [Graphical view]
Pfam	PF11933. DUF3451. 1 hit. PF00520. Ion_trans. 4 hits. PF06512. Na_trans_assoc. 1 hit. [Graphical view]
PRINTS	PR00170. NACHANNEL.
SMART	SM00015. IQ. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q9NY46.
ChEMBL	CHEMBL5163.
DrugBank	DB00555. Lamotrigine.
GenomeRNAi	6328.
NextBio	24562.
SOURCE	Search...

Entry information

Entry name

SCN3A_HUMAN

Accession

Primary (citable) accession number: Q9NY46
Secondary accession number(s): Q16142 , Q53SX0, Q9BZB3, Q9C006, Q9NYK2, Q9P2J1, Q9UPD1, Q9Y6P4

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 8, 2002
Last modified:	May 1, 2013
This is version 124 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.